Male BRCA1 and BRCA2 mutation carriers: a pilot study investigating medical characteristics of patients participating in a prostate cancer prevention clinic

The Prostate ◽  
2005 ◽  
Vol 65 (2) ◽  
pp. 124-129 ◽  
Author(s):  
Sheri Horsburgh ◽  
Andrew Matthew ◽  
Robert Bristow ◽  
John Trachtenberg
Keyword(s):  
Prostate Cancer ◽  
Pilot Study ◽  
Cancer Prevention ◽  
Brca2 Mutation ◽  
Brca1 And Brca2 ◽  
Mutation Carriers ◽  
Prostate Cancer Prevention ◽  
Prevention Clinic

scholarly journals Prostate cancer screening characteristics in men with BRCA1/2 mutations attending a high-risk prevention clinic

2014 ◽  
Vol 8 (11-12) ◽  
pp. 783 ◽  
Author(s):  
Richard Walker ◽  
Alyssa Louis ◽  
Alejandro Berlin ◽  
Sheri Horsburgh ◽  
Robert G. Bristow ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
High Risk ◽  
Prostate Cancer Screening ◽  
Brca2 Mutation ◽  
Aggressive Disease ◽  
Mutation Carriers ◽  
The Family ◽  
History Of ◽  
Prevention Clinic

Introduction: The prostate-specific antigen (PSA) era and resultant early detection of prostate cancer has presented clinicians with the challenge of distinguishing indolent from aggressive tumours. Mutations in the BRCA1/2 genes have been associated with prostate cancer risk and prognosis. We describe the prostate cancer screening characteristics of BRCA1/2 mutation carriers, who may be classified as genetically-defined high risk, as compared to another high-risk cohort of men with a family history of prostate cancer to evaluate the utility of a targeted screening approach for these men.Methods: We reviewed patient demographics, clinical screening characteristics, pathological features, and treatment outcomes between a group of BRCA1 or BRCA2 mutation carriers and age-matched men with a family history of prostate cancer followed at our institutional Prostate Cancer Prevention Clinic from 1995 to 2012.Results: Screening characteristics were similar between the mutation carriers (n = 53) and the family history group (n = 53). Some cancers would be missed in both groups by using a PSA cut-off of >4 ug/L. While cancer detection was higher in the family history group (21% vs. 15%), the mutation carrier group was more likely to have intermediate- or high-risk disease (88% vs. 36%). BRCA2 mutation carriers were more likely to have aggressive disease, biological recurrence, and distant metastasis.Conclusions: In our cohort, regular screening appears justified for detecting prostate cancer in BRCA1 and BRCA2 carriers and other high-risk populations. Lowering PSA cut-offs and defining monitoring of PSA velocity as part of the screening protocol may be useful. BRCA2 is associated with more aggressive disease, while the outcome for BRCA1 mutation carriers requires further study. Large multinational studies will be important to define screening techniques for this unique high-risk population.

Perceptions of risk and reward in BRCA1 and BRCA2 mutation carriers choosing salpingectomy for ovarian cancer prevention

2020 ◽  
Vol 19 (2) ◽  
pp. 143-151
Author(s):  
Talayeh S. Ghezelayagh ◽  
Lauren E. Stewart ◽  
Barbara M. Norquist ◽  
Deborah J. Bowen ◽  
Vivian Yu ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Prevention ◽  
Brca2 Mutation ◽  
Brca1 And Brca2 ◽  
Perceptions Of Risk ◽  
Mutation Carriers

Detecting prostate cancer in BRCA1 and BRCA2 mutation carriers: A role for EN2?

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 4653-4653
Author(s):  
Emma Killick ◽  
Richard Morgan ◽  
Francesca Launchbury ◽  
Nicola E. Annels ◽  
Elizabeth Bancroft ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Risk Group ◽  
Brca Mutation ◽  
Brca2 Mutation ◽  
Digital Rectal Examination ◽  
Brca1 And Brca2 ◽  
Mutation Carriers ◽  
Increased Risk ◽  
Brca Mutation Carriers ◽  
The Impact

4653 Background: EN2 is part of the HOX gene family and plays a role in foetal development. More recently a potential oncogenic role for the protein has been postulated and its utility as a cancer biomarker has been explored in prostate cancer (PrCa) and breast cancer. Carriers of mutations in the BRCA1 and BRCA2 genes have an increased risk of PrCa (1.8-fold and 5-fold respectively) and their tumours tend to be more aggressive and advanced than sporadic cases. Currently there is no national screening program for BRCA mutation carriers in the UK, and the IMPACT study was set up to evaluate PSA screening in this particular group. Here we analyse the efficacy of the urinary EN2 protein as a marker of early cancer detection within this higher risk group. Methods: First pass urine (without preceding digital rectal examination) was collected as part of the IMPACT screening study which enrolled individuals aged between 40 and 69 who were unaffected by PrCa at time of enrolment into the study (n= 418). All participants were from families harbouring a BRCA1 or BRCA2 mutation and were either BRCA mutation carriers themselves or controls with a negative predictive BRCA genetic test. They underwent annual PSA test with a PSA of > 3.0 ng/ml triggering a diagnostic biopsy. EN2 protein was measured in the urine using an ELISA; (positive = > 42.5ng/ml). Results: Our initial results demonstrated urinary EN2 had a sensitivity of 66.67% and a specificity of 89.29% when discriminating which men had been diagnosed with PrCa; the ROC AUC was 0.816. The difference in EN2 level between those diagnosed with cancer and those who were not was significant (p = <0.001). There was trend towards higher EN2 levels in those with more aggressive tumours (median EN2 84.5ng/mL in Gleason ≤3+4 vs 111ng/mL in Gleason ≥4+3), however this was not statistically significant. In one PrCa case EN2 rise preceded PSA rise by 2 years. Further samples are in the process of being analysed, results from these will be included. Conclusions: Urinary EN2 protein measurement warrants further investigation as a PrCa biomarker in this higher risk group with genetic predisposition to PrCa.

MP69-05 PSA VALUES AND KINETICS OF BRCA1 AND BRCA2 MUTATION CARRIERS AT HIGH RISK FOR PROSTATE CANCER

2014 ◽  
Vol 191 (4S) ◽  
Author(s):  
Christina Selkirk ◽  
David Hatcher ◽  
Jacquelyn Powers ◽  
Peter Hulick ◽  
Michael McGuire ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
High Risk ◽  
Brca2 Mutation ◽  
Brca1 And Brca2 ◽  
Mutation Carriers ◽  
Kinetics Of

scholarly journals Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

2014 ◽  
Vol 66 (3) ◽  
pp. 489-499 ◽  
Author(s):  
Elizabeth K. Bancroft ◽  
Elizabeth C. Page ◽  
Elena Castro ◽  
Hans Lilja ◽  
Andrew Vickers ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Cancer Screening ◽  
Prostate Cancer Screening ◽  
Brca2 Mutation ◽  
Impact Study ◽  
Initial Screening ◽  
Brca1 And Brca2 ◽  
Mutation Carriers ◽  
The Impact

Perceptions of risk and reward in BRCA1 and BRCA2 mutation carriers choosing salpingectomy for ovarian cancer prevention

2017 ◽  
Vol 145 ◽  
pp. 206
Author(s):  
T. Ghezelayagh ◽  
L. Stewart ◽  
V. Yu ◽  
K.J. Agnew ◽  
B.M. Norquist ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Prevention ◽  
Brca2 Mutation ◽  
Brca1 And Brca2 ◽  
Perceptions Of Risk ◽  
Mutation Carriers
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